Incidental Mutation 'R1698:Thoc2l'
ID |
192392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thoc2l
|
Ensembl Gene |
ENSMUSG00000079065 |
Gene Name |
THO complex subunit 2-like |
Synonyms |
Gm3179, BC005561 |
MMRRC Submission |
039731-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.930)
|
Stock # |
R1698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
104656216-104702073 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 104668376 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 966
(A966V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096452]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096452
AA Change: A966V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000130629 Gene: ENSMUSG00000079065 AA Change: A966V
Domain | Start | End | E-Value | Type |
Pfam:THOC2_N
|
10 |
424 |
3.5e-65 |
PFAM |
Pfam:THOC2_N
|
415 |
566 |
5.8e-32 |
PFAM |
Pfam:Thoc2
|
568 |
643 |
8.3e-40 |
PFAM |
low complexity region
|
729 |
747 |
N/A |
INTRINSIC |
Pfam:Tho2
|
873 |
1173 |
1.1e-105 |
PFAM |
low complexity region
|
1251 |
1262 |
N/A |
INTRINSIC |
low complexity region
|
1266 |
1283 |
N/A |
INTRINSIC |
coiled coil region
|
1310 |
1335 |
N/A |
INTRINSIC |
low complexity region
|
1355 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1459 |
1482 |
N/A |
INTRINSIC |
low complexity region
|
1524 |
1543 |
N/A |
INTRINSIC |
low complexity region
|
1561 |
1569 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,622,117 (GRCm39) |
E340A |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,264,507 (GRCm39) |
D2963G |
probably benign |
Het |
Actn3 |
T |
C |
19: 4,912,235 (GRCm39) |
D783G |
possibly damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,993,139 (GRCm39) |
E723G |
possibly damaging |
Het |
Agrn |
G |
T |
4: 156,251,015 (GRCm39) |
Q1931K |
probably benign |
Het |
Ankrd27 |
G |
A |
7: 35,313,946 (GRCm39) |
A426T |
probably benign |
Het |
Atg9b |
C |
A |
5: 24,593,186 (GRCm39) |
G406C |
probably damaging |
Het |
C1ra |
A |
T |
6: 124,499,725 (GRCm39) |
Q637L |
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,867,394 (GRCm39) |
M438L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,829,104 (GRCm39) |
I267V |
possibly damaging |
Het |
Chrna5 |
A |
G |
9: 54,911,926 (GRCm39) |
Y138C |
probably damaging |
Het |
Chst3 |
T |
A |
10: 60,021,525 (GRCm39) |
M441L |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,200,027 (GRCm39) |
P3434S |
probably benign |
Het |
Cog2 |
T |
A |
8: 125,252,422 (GRCm39) |
L42Q |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,250,272 (GRCm39) |
I210F |
probably benign |
Het |
Crnn |
C |
A |
3: 93,055,765 (GRCm39) |
Q184K |
probably damaging |
Het |
Csnka2ip |
A |
T |
16: 64,298,422 (GRCm39) |
Y647* |
probably null |
Het |
D5Ertd579e |
C |
T |
5: 36,761,874 (GRCm39) |
R1331H |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,516,587 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,593,426 (GRCm39) |
Q1231R |
possibly damaging |
Het |
Erbin |
T |
A |
13: 103,970,239 (GRCm39) |
I1126F |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,532,813 (GRCm39) |
D518G |
probably benign |
Het |
Gcc1 |
A |
G |
6: 28,421,110 (GRCm39) |
L69P |
possibly damaging |
Het |
Gkn1 |
T |
C |
6: 87,324,151 (GRCm39) |
Y119C |
probably damaging |
Het |
Gmpr |
T |
G |
13: 45,670,520 (GRCm39) |
W81G |
probably benign |
Het |
Gyg1 |
T |
A |
3: 20,192,215 (GRCm39) |
I236F |
probably benign |
Het |
Hcrtr2 |
T |
C |
9: 76,153,735 (GRCm39) |
Y219C |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,441,120 (GRCm39) |
Q5379* |
probably null |
Het |
Kank1 |
T |
C |
19: 25,388,681 (GRCm39) |
C785R |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,741,818 (GRCm39) |
C3036* |
probably null |
Het |
Mdga2 |
T |
C |
12: 66,736,109 (GRCm39) |
D373G |
probably damaging |
Het |
Mgat2 |
A |
T |
12: 69,232,493 (GRCm39) |
I356F |
probably benign |
Het |
Miga2 |
A |
G |
2: 30,268,009 (GRCm39) |
D346G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,651,084 (GRCm39) |
L1596Q |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,943,622 (GRCm39) |
R386Q |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,797,179 (GRCm39) |
S1349R |
probably benign |
Het |
Mtmr3 |
C |
T |
11: 4,442,825 (GRCm39) |
R403H |
possibly damaging |
Het |
Mycbpap |
G |
A |
11: 94,398,969 (GRCm39) |
Q460* |
probably null |
Het |
Myo9a |
T |
C |
9: 59,775,464 (GRCm39) |
V1025A |
probably benign |
Het |
Ncapd2 |
C |
T |
6: 125,145,553 (GRCm39) |
E1365K |
probably null |
Het |
Nkiras2 |
C |
A |
11: 100,515,989 (GRCm39) |
D105E |
probably damaging |
Het |
Nolc1 |
T |
G |
19: 46,069,870 (GRCm39) |
|
probably null |
Het |
Nos1 |
T |
C |
5: 118,005,297 (GRCm39) |
F6L |
probably benign |
Het |
Or10j3 |
A |
T |
1: 173,030,938 (GRCm39) |
N5I |
probably damaging |
Het |
Or12e1 |
G |
T |
2: 87,022,081 (GRCm39) |
V17L |
probably benign |
Het |
Or2t46 |
T |
C |
11: 58,472,077 (GRCm39) |
Y136H |
probably damaging |
Het |
Or2w1b |
C |
T |
13: 21,300,735 (GRCm39) |
T291I |
probably benign |
Het |
Or4f54 |
T |
A |
2: 111,122,905 (GRCm39) |
C97* |
probably null |
Het |
Or8b46 |
T |
A |
9: 38,450,552 (GRCm39) |
Y120* |
probably null |
Het |
Pfkm |
A |
G |
15: 98,026,199 (GRCm39) |
E598G |
possibly damaging |
Het |
Phf2 |
A |
T |
13: 48,961,106 (GRCm39) |
D861E |
unknown |
Het |
Polr2a |
A |
G |
11: 69,630,703 (GRCm39) |
|
probably null |
Het |
Popdc2 |
G |
A |
16: 38,189,853 (GRCm39) |
V167M |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,114 (GRCm39) |
S422P |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,450,428 (GRCm39) |
K490R |
possibly damaging |
Het |
Rbfox3 |
T |
A |
11: 118,386,047 (GRCm39) |
D286V |
probably damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,790 (GRCm39) |
W223R |
probably damaging |
Het |
Riok3 |
T |
C |
18: 12,261,986 (GRCm39) |
S7P |
probably benign |
Het |
Rnaseh2b |
A |
G |
14: 62,591,081 (GRCm39) |
E144G |
probably benign |
Het |
Rnf20 |
C |
T |
4: 49,651,498 (GRCm39) |
Q655* |
probably null |
Het |
Rpap2 |
T |
C |
5: 107,751,416 (GRCm39) |
Y8H |
probably damaging |
Het |
Slc5a10 |
T |
C |
11: 61,600,428 (GRCm39) |
Y181C |
probably benign |
Het |
Snd1 |
G |
T |
6: 28,888,252 (GRCm39) |
G896* |
probably null |
Het |
Spast |
C |
T |
17: 74,663,155 (GRCm39) |
Q158* |
probably null |
Het |
Tas2r104 |
G |
A |
6: 131,662,547 (GRCm39) |
S54F |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,604,951 (GRCm39) |
W611* |
probably null |
Het |
Timp4 |
G |
A |
6: 115,227,364 (GRCm39) |
|
probably null |
Het |
Tmem45a |
G |
A |
16: 56,643,933 (GRCm39) |
S72L |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,458 (GRCm39) |
T124A |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,773,259 (GRCm39) |
D2381G |
probably damaging |
Het |
Uevld |
T |
C |
7: 46,605,372 (GRCm39) |
T41A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,186,506 (GRCm39) |
E527G |
probably damaging |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r63 |
A |
C |
7: 42,583,038 (GRCm39) |
I59S |
probably benign |
Het |
Vps72 |
G |
A |
3: 95,026,006 (GRCm39) |
S106N |
probably benign |
Het |
Zan |
A |
C |
5: 137,407,931 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,567,515 (GRCm39) |
K1190E |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,859,278 (GRCm39) |
V1103A |
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,282 (GRCm39) |
T277I |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,819,509 (GRCm39) |
S1149P |
probably damaging |
Het |
|
Other mutations in Thoc2l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01023:Thoc2l
|
APN |
5 |
104,668,366 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01024:Thoc2l
|
APN |
5 |
104,669,612 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01133:Thoc2l
|
APN |
5 |
104,665,528 (GRCm39) |
missense |
probably benign |
|
IGL01564:Thoc2l
|
APN |
5 |
104,668,529 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01727:Thoc2l
|
APN |
5 |
104,667,379 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02086:Thoc2l
|
APN |
5 |
104,666,867 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02153:Thoc2l
|
APN |
5 |
104,668,949 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02256:Thoc2l
|
APN |
5 |
104,668,149 (GRCm39) |
nonsense |
probably null |
|
IGL02436:Thoc2l
|
APN |
5 |
104,669,021 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02969:Thoc2l
|
APN |
5 |
104,667,209 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03275:Thoc2l
|
APN |
5 |
104,666,143 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03357:Thoc2l
|
APN |
5 |
104,668,334 (GRCm39) |
missense |
probably damaging |
1.00 |
Magnetar
|
UTSW |
5 |
104,668,145 (GRCm39) |
missense |
probably damaging |
0.99 |
F2404:Thoc2l
|
UTSW |
5 |
104,668,096 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0318:Thoc2l
|
UTSW |
5 |
104,665,619 (GRCm39) |
missense |
probably benign |
0.00 |
R0349:Thoc2l
|
UTSW |
5 |
104,667,842 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0454:Thoc2l
|
UTSW |
5 |
104,666,077 (GRCm39) |
missense |
probably benign |
0.45 |
R0742:Thoc2l
|
UTSW |
5 |
104,670,020 (GRCm39) |
missense |
probably benign |
0.00 |
R0842:Thoc2l
|
UTSW |
5 |
104,667,066 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0882:Thoc2l
|
UTSW |
5 |
104,666,875 (GRCm39) |
missense |
probably benign |
0.05 |
R1123:Thoc2l
|
UTSW |
5 |
104,666,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R1171:Thoc2l
|
UTSW |
5 |
104,668,769 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1205:Thoc2l
|
UTSW |
5 |
104,668,079 (GRCm39) |
missense |
probably benign |
0.28 |
R1261:Thoc2l
|
UTSW |
5 |
104,668,501 (GRCm39) |
missense |
probably damaging |
0.98 |
R1432:Thoc2l
|
UTSW |
5 |
104,665,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Thoc2l
|
UTSW |
5 |
104,670,070 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1466:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R1466:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R1584:Thoc2l
|
UTSW |
5 |
104,666,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R1636:Thoc2l
|
UTSW |
5 |
104,668,616 (GRCm39) |
missense |
probably damaging |
0.99 |
R1686:Thoc2l
|
UTSW |
5 |
104,667,789 (GRCm39) |
nonsense |
probably null |
|
R1816:Thoc2l
|
UTSW |
5 |
104,665,700 (GRCm39) |
missense |
probably benign |
0.16 |
R1903:Thoc2l
|
UTSW |
5 |
104,666,196 (GRCm39) |
missense |
probably benign |
0.00 |
R2096:Thoc2l
|
UTSW |
5 |
104,667,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2146:Thoc2l
|
UTSW |
5 |
104,666,857 (GRCm39) |
missense |
probably benign |
|
R2226:Thoc2l
|
UTSW |
5 |
104,667,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R2227:Thoc2l
|
UTSW |
5 |
104,667,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R2383:Thoc2l
|
UTSW |
5 |
104,666,854 (GRCm39) |
missense |
probably benign |
0.23 |
R2656:Thoc2l
|
UTSW |
5 |
104,667,181 (GRCm39) |
missense |
probably benign |
0.05 |
R3982:Thoc2l
|
UTSW |
5 |
104,668,889 (GRCm39) |
missense |
probably benign |
0.29 |
R3983:Thoc2l
|
UTSW |
5 |
104,668,889 (GRCm39) |
missense |
probably benign |
0.29 |
R4115:Thoc2l
|
UTSW |
5 |
104,667,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4345:Thoc2l
|
UTSW |
5 |
104,669,315 (GRCm39) |
missense |
probably benign |
0.21 |
R4697:Thoc2l
|
UTSW |
5 |
104,670,106 (GRCm39) |
missense |
probably benign |
0.00 |
R4711:Thoc2l
|
UTSW |
5 |
104,667,527 (GRCm39) |
missense |
probably damaging |
0.98 |
R4742:Thoc2l
|
UTSW |
5 |
104,666,723 (GRCm39) |
missense |
probably benign |
0.17 |
R4758:Thoc2l
|
UTSW |
5 |
104,668,265 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4863:Thoc2l
|
UTSW |
5 |
104,665,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4867:Thoc2l
|
UTSW |
5 |
104,668,868 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5024:Thoc2l
|
UTSW |
5 |
104,670,124 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5114:Thoc2l
|
UTSW |
5 |
104,667,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R5117:Thoc2l
|
UTSW |
5 |
104,668,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Thoc2l
|
UTSW |
5 |
104,667,523 (GRCm39) |
missense |
probably benign |
0.03 |
R5341:Thoc2l
|
UTSW |
5 |
104,665,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R5420:Thoc2l
|
UTSW |
5 |
104,666,225 (GRCm39) |
missense |
probably damaging |
0.99 |
R5421:Thoc2l
|
UTSW |
5 |
104,666,261 (GRCm39) |
missense |
probably benign |
0.01 |
R5422:Thoc2l
|
UTSW |
5 |
104,667,512 (GRCm39) |
missense |
probably damaging |
0.98 |
R5606:Thoc2l
|
UTSW |
5 |
104,669,744 (GRCm39) |
missense |
probably benign |
0.00 |
R5939:Thoc2l
|
UTSW |
5 |
104,667,073 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6104:Thoc2l
|
UTSW |
5 |
104,666,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Thoc2l
|
UTSW |
5 |
104,666,262 (GRCm39) |
missense |
probably benign |
0.00 |
R6316:Thoc2l
|
UTSW |
5 |
104,667,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R6352:Thoc2l
|
UTSW |
5 |
104,668,064 (GRCm39) |
missense |
probably benign |
0.11 |
R6408:Thoc2l
|
UTSW |
5 |
104,666,643 (GRCm39) |
missense |
probably benign |
0.19 |
R6458:Thoc2l
|
UTSW |
5 |
104,670,169 (GRCm39) |
missense |
probably benign |
0.02 |
R6722:Thoc2l
|
UTSW |
5 |
104,668,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R6789:Thoc2l
|
UTSW |
5 |
104,665,555 (GRCm39) |
missense |
probably benign |
0.00 |
R7214:Thoc2l
|
UTSW |
5 |
104,670,229 (GRCm39) |
missense |
probably benign |
|
R7494:Thoc2l
|
UTSW |
5 |
104,666,284 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7733:Thoc2l
|
UTSW |
5 |
104,667,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7884:Thoc2l
|
UTSW |
5 |
104,669,212 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7945:Thoc2l
|
UTSW |
5 |
104,666,413 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8112:Thoc2l
|
UTSW |
5 |
104,669,501 (GRCm39) |
missense |
probably benign |
|
R8131:Thoc2l
|
UTSW |
5 |
104,669,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8418:Thoc2l
|
UTSW |
5 |
104,667,724 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8963:Thoc2l
|
UTSW |
5 |
104,665,652 (GRCm39) |
missense |
probably benign |
0.00 |
R9051:Thoc2l
|
UTSW |
5 |
104,666,818 (GRCm39) |
missense |
probably benign |
0.07 |
R9169:Thoc2l
|
UTSW |
5 |
104,666,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R9250:Thoc2l
|
UTSW |
5 |
104,667,320 (GRCm39) |
missense |
probably benign |
0.00 |
R9358:Thoc2l
|
UTSW |
5 |
104,667,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9451:Thoc2l
|
UTSW |
5 |
104,668,644 (GRCm39) |
missense |
probably benign |
0.07 |
R9452:Thoc2l
|
UTSW |
5 |
104,669,610 (GRCm39) |
missense |
probably benign |
0.00 |
R9567:Thoc2l
|
UTSW |
5 |
104,669,644 (GRCm39) |
missense |
probably benign |
0.00 |
R9760:Thoc2l
|
UTSW |
5 |
104,667,101 (GRCm39) |
missense |
probably benign |
|
Z1176:Thoc2l
|
UTSW |
5 |
104,668,058 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTGCCACATACCAGCTATGAAC -3'
(R):5'- TCCACCATCAAATCCAGTTGCTCG -3'
Sequencing Primer
(F):5'- TACCAGCTATGAACGGGAAGTC -3'
(R):5'- AGGAATCCTGGATAGTTTCCAC -3'
|
Posted On |
2014-05-14 |